Summary
A family with G-ring mosaicism in two generations in presented. The index patient has the chromosome constitution: G-ring / G-monosomy. His mother, brother and maternal uncle are mosaics with 3 cell lines: Normal (predominantly) / G-ring (few) / G-monosomy (few). The index patient presents with small stature (below 3rd percentile) and mental retardation, his mother, brother and uncle are clinically normal individuals except for some minor degenerative signs. The lack of similarity between the phenotypes of the index patient and of other carriers of a G-ring from the literature does not seem to justify the assertion of a new syndrome.
Zusammenfassung
Das familiäre Vorkommen eines G-Rings in Mosaikkonstitution zweier Generationen wird beschrieben. Der Proband stellt ein Mosaik mit der Formel G-Ring/G-Monosomie dar. Seine Mutter, Bruder und Onkel mütterlicherseits sind Mosaikkonstitutionen mitden Zellinien: Normal (überwiegend) / G-Ring (schwach) / G-Monosomie (schwach). Der Proband ist geistig retardiert und klein gewachsen (unter der 3. Perzentile), die übrigen Mosaikindividuen sind bis auf wenige pathologische Züge klinisch unauffällig. Der Merkmalsvergleich zwischen dem Probanden und den anderen, in der Literatur beschriebenen Fällen von G-Ring-Trägern zeigt, daß die Phänotypen dieser Individuen jene Ähnlichkeiten vermissen lassen, welche die Aufstellung eines Syndroms rechtfertigen würden.
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Zdansky, R., Bühler, E.M., Vest, M. et al. Familiäres Mosaik mit G-ring. Hum Genet 7, 275–286 (1969). https://doi.org/10.1007/BF00283550
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DOI: https://doi.org/10.1007/BF00283550